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Genetics (Expert Forum)
MTHFR C677T Homozygous & Factor V Leiden Heterozygous
Answered by
Lisa Kessler, MS, CGC - Hereditary Disorders, hemochromatosis, Patient Outreach
DNA Direct
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MTHFR C677T Homozygous & Factor V Leiden Heterozygous
by Mscookie, Oct 06, 2007 10:59PM
I posted previously in regards to my recent stillbirth and my heterozygousity for Factor V Leiden. After reviewing my pathology I noticed that I am also Homozygous for MHTFR C677T.
My understanding is that MTHFR C677T Homozygousity is only a risk factor or problem if your homosystein levels are elevated. I am VERY concerned now about my risk of Thrombosis during pregnancy and in general day to day living. I have absolutely no history in either side of my family for Blood clots, stroke or heart attack. My maternal grandparents all live and lived well into their late 70's so I'm finding this difficult to accept.
1. What is my risk now with both these Varients in my genes???????????
2. Is a blood clot inevitable for me? Can people actually live with these variants and NEVER have a clotting episode?
Just an end note. I love the advances in Medicine, but I feel that it has gone too far. If we had the knowledge and tested EVERY gene in the body I am sure that everyone on this earth has some sort of mutation, but are they mutations or the way nature has designed us? I honeslty feel that Factor V Leiden and MTHFR are WELL underdiagnosed!
My understanding is that MTHFR C677T Homozygousity is only a risk factor or problem if your homosystein levels are elevated. I am VERY concerned now about my risk of Thrombosis during pregnancy and in general day to day living. I have absolutely no history in either side of my family for Blood clots, stroke or heart attack. My maternal grandparents all live and lived well into their late 70's so I'm finding this difficult to accept.
1. What is my risk now with both these Varients in my genes???????????
2. Is a blood clot inevitable for me? Can people actually live with these variants and NEVER have a clotting episode?
Just an end note. I love the advances in Medicine, but I feel that it has gone too far. If we had the knowledge and tested EVERY gene in the body I am sure that everyone on this earth has some sort of mutation, but are they mutations or the way nature has designed us? I honeslty feel that Factor V Leiden and MTHFR are WELL underdiagnosed!
Doctor's Answer
by Lisa Kessler, MS, CGC, Oct 11, 2007 07:42PM
, Oct 11, 2007 07:42PM
I appreciate the issue that you raise about the differences between genetic variation and genetic mutations. I hope that you are finding the information and support that you need and that the following information is helpful.
Research about the significance of having 2 copies of C677T (homozygous) is conflicting. Several studies state that in the absence of an elevated homocysteine level, C677T homozygosity by itself is not a risk factor for DVT. Homozygosity for C677T occurs in 10%-20% of the general population and can increase the risk for elevated homocysteine levels. Thank you for including that your homocysteine was normal.
Being heterozygous for factor V Leiden is very common and affects 5% of the white population. In thinking about your own risks for developing a DVT, being heterozygous for factor V Leiden increases the risk of developing a first DVT by 5-7 fold. The approximate risk to develop a DVT in the general population is about 1 in 1000. With one factor V Leiden gene, the risk is 5 to 7 people in 1000. Therefore, not all people who are heterozygous for factor V Leiden ever develop blood clots. One reliable source of information about thrombophilia that you may want to check out is the National Alliance for Thrombosis and Thrombophilia (NATT).
Research about the significance of having 2 copies of C677T (homozygous) is conflicting. Several studies state that in the absence of an elevated homocysteine level, C677T homozygosity by itself is not a risk factor for DVT. Homozygosity for C677T occurs in 10%-20% of the general population and can increase the risk for elevated homocysteine levels. Thank you for including that your homocysteine was normal.
Being heterozygous for factor V Leiden is very common and affects 5% of the white population. In thinking about your own risks for developing a DVT, being heterozygous for factor V Leiden increases the risk of developing a first DVT by 5-7 fold. The approximate risk to develop a DVT in the general population is about 1 in 1000. With one factor V Leiden gene, the risk is 5 to 7 people in 1000. Therefore, not all people who are heterozygous for factor V Leiden ever develop blood clots. One reliable source of information about thrombophilia that you may want to check out is the National Alliance for Thrombosis and Thrombophilia (NATT).
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I'm not too sure what to think with these new discoveries that I have found out about myself. You are correct when saying that studies are conflicting about MHTFR C677T and some even conflict one another about Factor V Leiden. The only thing I can is take precautions, which I will surley do.